https://www.ncbi.nlm.nih.gov/Structure/pdb/5VSZ
5VSZ: Structure of the Ubl domain of Sacsin mutant L78M
of thestructureubldomainmutant
https://pubmed.ncbi.nlm.nih.gov/34649874/
Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and...
Our results provide a mechanistic explanation for the lack of genotype-phenotype correlation in ARSACS. We also propose a new and unambiguous criterion for...